IthaID: 4110


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 146 kb deletion HGVS Name: NC_000016.10:g.148636_295089del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion was detected by third-generation sequencing and removed HBA1, HBA2, HBZ, HBQ1, LUC7L, FAM234A, RGS11, PDIA2 and part of the AXIN1.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 9499
Size: 146.453 kb
Deletion involves: ζ, α2, α1, HBM, AXIN1

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Wei, Fengxiang2024-10-17First report.
Created on 2024-10-21 14:11:30, Last reviewed on (Show full history)

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